Unique clinicopathologic and genetic alteration features in early onset colorectal carcinoma compared with age-related colorectal carcinoma: a large cohort next generation sequence analysis.
Unique clinicopathologic and genetic alteration features in early onset colorectal carcinoma compared with age-related colorectal carcinoma: a large cohort next generation sequence analysis.
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DOI：
10.1016/j.humpath.2020.08.002
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发表时间：
2020-11
期刊：
影响因子：
3.3
通讯作者：
Yang, Guang-Yu
中科院分区：
文献类型：
--
作者：
Escobar, David;Jones, Ryan;Gao, Juehua;Sun, Leyu;Liao, Jie;Yang, Guang-Yu
关键词：
结直肠癌（CRC）是美国第三大常见癌症类型。虽然在接受筛查的老年人群中CRC的发病率正在下降，但早发性CRC的发病率正在上升。越来越多的人认识到结直肠癌的分子基础因年龄而异。在这项研究中，我们报告的遗传学改变和临床病理特征的一个单一的机构结直肠癌队列超过2年的时间内使用下一代测序（NGS）的方法和微卫星稳定性（MS）的状态确定免疫组化染色。在年龄<40岁的早发队列（eCRC）中确定了40例病例，在年龄>70岁的年龄相关队列（arCRC）中确定了164例病例。eCRC更常见于左侧/直肠，并且更可能表现出较高的淋巴结阳性率和转移性疾病。NGS突变分析显示eCRC和arCRC之间存在明显差异，eCRC的特征是PIK 3CA突变频率低，MSI-H肿瘤中KRAS和CTNNB 1突变频率升高，BRAF突变频率非常低。
Colorectal carcinoma (CRC) is the third most common cancer type in the United States. While the incidence of CRC is decreasing among an older population undergoing screening, the incidence of early-onset CRC is rising. There is a growing understanding that the molecular underpinnings of colorectal carcinoma vary by age. In this study we report the genetic alterations and clinicopathologic features of a single-institution colorectal carcinoma cohort over a 2-year period using a next generation sequencing (NGS) approach and microsatellite stability (MS) status determined by immunohistochemical staining. 40 cases were identified in an early-onset cohort (eCRC) defined by age <40 years and 164 cases were identified in age-related cohort (arCRC) defined by age >70 years. eCRC was more often-left-sided/rectal and more likely to present high rates of lymph node positivity with metastatic disease. NGS mutational analysis revealed distinct differences between eCRC and arCRC, with eCRC being characterized by low frequency of PIK3CA mutations, elevated frequency of KRAS and CTNNB1 mutations in MSI-H tumors, and very low frequency of BRAF mutations.
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